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The involvement of DNA-damage and -repair defects in neurological dysfunction.

ABSTRACT: A genetic link between defects in DNA repair and neurological abnormalities has been well established through studies of inherited disorders such as ataxia telangiectasia and xeroderma pigmentosum. In this review, we present a comprehensive summary of the major types of DNA damage, the molecular pathways that function in their repair, and the connection between defective DNA-repair responses and specific neurological disease. Particular attention is given to describing the nature of the repair defect and its relationship to the manifestation of the associated neurological dysfunction. Finally, the review touches upon the role of oxidative stress, a leading precursor to DNA damage, in the development of certain neurodegenerative pathologies, such as Alzheimer's and Parkinson's.

SUBMITTER: Kulkarni A

PROVIDER: S-EPMC2427185 | biostudies-literature | 2008 Mar

REPOSITORIES: biostudies-literature

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The involvement of DNA-damage and -repair defects in neurological dysfunction.

Kulkarni Avanti A Wilson David M DM

American journal of human genetics 20080301 3

A genetic link between defects in DNA repair and neurological abnormalities has been well established through studies of inherited disorders such as ataxia telangiectasia and xeroderma pigmentosum. In this review, we present a comprehensive summary of the major types of DNA damage, the molecular pathways that function in their repair, and the connection between defective DNA-repair responses and specific neurological disease. Particular attention is given to describing the nature of the repair d ...[more]

PMID: 18319069

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